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Article

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular genetics & genomic medicine - 1 Apr 2020

Witkowski Leora, Dillon Mitchell W, Murphy Elissa, S Lebo Matthew, Mason-Suares Heather

Abstract excerpt

BACKGROUND: RASopathies are a group of disorders caused by disruptions to the RAS-MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum disorders (NSDs). However, some NF1/LS individuals also exhibit NSD phenotypes, often referred to as Neurofibromatosis-Noonan syndrome (NFNS), and may be mistakenly...

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PMID: 32107864
DOI: 10.1002/mgg3.1180
PMCID: PMC7196473

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